Published papers
Hasegawa, Tomonobu
381-400 items (total 510)
Japanese founder duplication/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gallop-Wolfgang complex.
- Author
- Nagata E, Kano H, Kato F, Yamaguchi R, Nakashima S, Takayama S, Kosaki R, Tonoki H, Mizuno S, Watanabe S, Yoshiura K, Kosho T, Hasegawa T, Kimizuka M, Suzuki A, Shimizu K, Ohashi H, Haga N, Numabe H, Horii E, Nagai T, Yoshihashi H, Nishimura N, Toda T, Takada S, Yokoyama S, Asahara H, Sano S, Fukami M, Ikegawa S, Ogata T.
- Publication Title
- Magazine name Orphanet J Rare Disease Start Page 125 - End Page 125 (Publication Date）2014）
Comprehensive Next Generation Sequencing Analyses of Hypoparathyroidism: Identification of Novel GCM2 Mutations.
- Author
- Mitsui T, Narumi S, Inokuchi M, Nagasaki K, Nakazawa M, Sasaki G, Hasegawa T.
- Publication Title
- Magazine name J Clin Endocrinol Metab Start Page E2421 - End Page E2428 (Publication Date）2014）
Deletions in the 3’ part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.
- Author
- Schanze D, Neubauer D, Cormier-Daire V, Delrue MA, de Silva DC, Hasegawa T, Koenig R, Krueger G, Petit F, Schanze I, Seemanova E, Vogt J, Strom TM, Meinecke P, Reis A, Hennekam RCM, Zenker M.
- Publication Title
- Magazine name Hum Mutation Start Page 1092 - End Page 1100 (Publication Date）2014）
Deletions in the 3’ part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.
- Author
- Schanze D, Neubauer D, Cormier-Daire V, Delrue MA, de Silva DC, Hasegawa T, Koenig R, Krueger G, Petit F, Schanze I, Seemanova E, Vogt J, Strom TM, Meinecke P, Reis A, Hennekam RCM, Zenker M.
- Publication Title
- Magazine name Hum Mutation Start Page 1092 - End Page 1100 (Publication Date）2014）
Reference standard of penile size and prevalence of buried penis in Japanese newborn male infants.
- Author
- Matsuo N, Ishii T, Takayama JI, Miwa M, Hasegawa T.
- Publication Title
- Magazine name Endocrine J Start Page 849 - End Page 853 (Publication Date）2014）
The contribution of serine 194 phosphorylation to steroidogenic acute regulatory protein function.
- Author
- Sasaki G, Zubair M, Ishii T, Mitsui T, Hasegawa T, Auchus RJ.
- Publication Title
- Magazine name Mol Endocrinol Start Page 1088 - End Page 1096 (Publication Date）2014）
Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.
- Author
- Mitsui T, Kim O-H, Hall C, Johnson D, Jin D-K, Toh T-H, Soneda S, Keino D, Matsubayashi S, Ishii T, Nishimura G, Hasegawa T.
- Publication Title
- Magazine name Am J Med Genet A Start Page 2529 - End Page 2534 (Publication Date）2014）
Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature.
- Author
- Kitaoka T, Miyoshi Y, Namba N, Miura K, Kubota T, Ohata Y, Fujiwara M, takagi M, Hasegawa T, Juppner H, Ozono K.
- Publication Title
- Magazine name Eur J Pediatr Start Page 799 - End Page 804 (Publication Date）2014）
A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring bouble mutations in MLL2 and SOX3.
- Author
- Takagi M, Ishii T, Torii C, Kosaki K, Hasegawa T.
- Publication Title
- Magazine name Pituitary Start Page 569 - End Page 574 (Publication Date）2014）
Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature.
- Author
- Amano N, Mukai T, Iyo Y, Narumi S, Tanaka T, Yokoya S, Ogata T, Hasegawa T.
- Publication Title
- Magazine name J Clin Endocrinol Metab Start Page E713 - End Page F718 (Publication Date）2014）
Trends in thin body stature among Japanese male adolescents, 2003 to 2012.
- Author
- Inokuchi M, Matsuo N, Takayama JI, Hasegawa T.
- Publication Title
- Magazine name Ann Hum Biol Start Page 277 - End Page 281 (Publication Date）2014）
Prognosis of primary aldosteronism in Japan: results from a nationwide epidemiological study.
- Author
- Miyake Y, Tanaka K, Nishikawa T, Naruse M, Takayanagi R, Sasano H, Takeda Y, Shibata H, Sone M, Satoh F, Yamada M, Ueshiba H, Katabami T, Iwasaki Y, Tanaka H, Tanahashi Y, Suzuki S, Hasegawa T, Katsumata N, Tajima T, Yanase T.
- Publication Title
- Magazine name Endocrine J Start Page 35 - End Page 40 (Publication Date）2014）
A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation.
- Author
- Takagi M, Narumi S, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T.
- Publication Title
- Magazine name Hor Res Paediatr Start Page 133 - End Page 138 (Publication Date）2014）
Neonatal case of classic maple syrup urine disease: Usefulness of 1H-MRS in early diagnosis.
- Author
- Sato T, Muroya K, Hanakawa J, Asakura Y, Aida N, Tomiyasu M, Tajima G, Hasegawa T, Adachi M.
- Publication Title
- Magazine name Pediatr Int Start Page 112 - End Page 115 (Publication Date）2014）
Steeper increases in body-mass index during childhood correlate with blood pressure elevation in adolescence: a long-term follow-up study in a Japanese community.
- Author
- Kuwahara E, Asakura K, Nishiwaki Y, Komatsu H, Nakawaza A, Ushiku H, Maejima F, Nishigaki Y, Hasegawa T, Okamura T, Takebayashi T.
- Publication Title
- Magazine name Hypertension Res Start Page 179 - End Page 184 (Publication Date）2014）
IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.
- Author
- tKato F, Hamajima T, Hasegawa T, Amano N, Horikawa R, Nishimura G, Nakashima S, Fuke T, Sano S, Fukami M, Ogata T.
- Publication Title
- Magazine name Clin Endocrinol Start Page 706 - End Page 713 (Publication Date）2014）
性分化疾患の基礎と臨床
- Author
- HASEGAWA TOMONOBU
- Publication Title
- Start Page 5 - End Page 9 (Publication Date）2014）
遺伝子と性差
- Author
- 室谷浩二、長谷川奉延
- Publication Title
- Start Page 686 - End Page 692 (Publication Date）2014）
周産期医療にかかわる全ての医師に御理解頂きたい新生児外陰部診察のコツ
- Author
- HASEGAWA TOMONOBU
- Publication Title
- Start Page 1198 - End Page 1199 (Publication Date）2014）
周産期医療にかかわる全ての医師に御理解頂きたい新生児外陰部診察のコツ
- Author
- HASEGAWA TOMONOBU
- Publication Title
- Start Page 1198 - End Page 1199 (Publication Date）2014）